Relation Results

Summary

Name	CBFbeta-MYH11
Primary ID	SIGNOR-FP3
Type	Fusion Protein
Formed by	P35749, Q13951
Description	Inversion of chromosome 16, inv(16)(p13q22) (inv(16)) and the related, but less common translocation t(16;16)(p13;q22), results in a CBFB-MYH11 gene fusion. These rearrangements are associated with nearly all cases of French-American-British (FAB) classified AML subtype M4 with Eosinophilia (M4Eo), which is characterized by the presence of myelomonocytic blasts and atypical eosinophils. Both of these rearrangements generate a fusion between the gene for Core Binding Factor β (CBFB) and the MYH11 gene, which encodes Smooth Muscle Myosin Heavy Chain (SMMHC)1. Expression of CBFB-MYH11 is thought to be the initiating event in inv(16) AML.
Sequence	MPRVVPDQRSKFENEEFFRKLSRECEIKYTGFRDRPHEERQARFQNACRDGRSEIAFVATGTNLSLQFFPASWQGEQRQTPSREYVDLEREAGKVYLKAPMILNGVCVIWKGWIDLQRLDGMGCLEFDEERAQQEDALAQQAFEEARRRTREFEDRDRSHREEMEVHELEKSKRALETQMEEMKTQLEELEDELQATEDAKLRLEVNMQALKGQFERDLQARDEQNEEKRRQLQRQLHEYETELEDERKQRALAAAAKKKLEGDLKDLELQADSAIKGREEAIKQLRKLQAQMKDFQRELEDARASRDEIFATAKENEKKAKSLEADLMQLQEDLAAAERARKQADLEKEELAEELASSLSGRNALQDEKRRLEARIAQLEEELEEEQGNMEAMSDRVRKATQQAEQLSNELATERSTAQKNESARQQLERQNKELRSKLHEMEGAVKSKFKSTIAALEAKIAQLEEQVEQEAREKQAATKSLKQKDKKLKEILLQVEDERKMAEQYKEQAEKGNARVKQLKRQLEEAEEESQRINANRLKEILLQVEDERKMAEQYKEQAEKGNARVKQLKRQLEEAEEESQRINANRRKLQRELDEATESNEAMGREVNALKSKLRRGNETSFVPSRRSGGRRVIENADGSEEETDTRDADFNGTKASE
Relations	5
Pathways	Acute Myeloid Leukemia, Onco-fusion proteins in AML, KIT in AML